{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829517704",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 131,
          "referenceAllele": "Q",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004431",
      "geneNCBI_id": 9570,
      "geneSymbol": "GOSR2",
      "hgvs": [
        "NP_004278.2:p.Gln131His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8621289",
          "hgvs": "NM_004287.5:c.393G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400018108",
          "hgvs": "NM_004287.5:c.393G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170000"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929871[alleleid]",
        "alleleId": 929871,
        "preferredName": "NM_004287.5(GOSR2):c.393G>T (p.Gln131His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/947451",
        "RCV": [
          "RCV001218533",
          "RCV001751415"
        ],
        "variationId": 947451
      }
    ]
  },
  "type": "amino-acid"
}